Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		P06865 hexosaminidase subunit alpha Enzyme 26 0.633 0.615 1.3E-11 1.000 None 1.000 101 102 1982 2019
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		P17900 GM2 ganglioside activator Transporter 2 0.678 0.692 3.1E-02 0.430 strong 1.000 0 1 2000 2015